Genomic variant #0000038390

Individual ID 00020000
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45797507G>A
Reference -
DB-ID MUTYH_000072 See all 6 reported entries
dbSNP ID  rs587780082
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00034
Allele Count 2
Allele Number 5858
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MUTYH NM_001048171.1 +/+ - c.970C>T r.(?) p.(Gln324*)
MUTYH NM_001048172.1 +/+ - c.931C>T r.(?) p.(Gln311*)
MUTYH NM_001048173.1 +/+ - c.928C>T r.(?) p.(Gln310*)
MUTYH NM_001048174.1 +/+ - c.928C>T r.(?) p.(Gln310*)
MUTYH NM_001128425.1 +/+ - c.1012C>T r.(?) p.(Gln338*)
MUTYH NM_012222.2 +/+ - c.1003C>T r.(?) p.(Gln335*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006287 DNA SEQ 1 MUTYH 2 Despoina Kalfakakou